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BIBTEX RIS

Paraoxonase gene mutations in amyotrophic lateral sclerosis

2010; Wiley; Volume: 68; Issue: 1 Linguagem: Inglês

10.1002/ana.21993

ISSN

1531-8249

Autores

Nicola Ticozzi, Ashley LeClerc, Pamela Keagle, Jonathan D. Glass, Anne‐Marie Wills, Marka van Blitterswijk, Daryl A. Bosco, Ildefonso Rodríguez‐Leyva, Cinzia Gellera, Antonia Ratti, Franco Taroni, Diane McKenna‐Yasek, Peter C. Sapp, Vincenzo Silani, Clement E. Furlong, Robert H. Brown, John E. Landers,

Tópico(s)

Paraoxonase enzyme and polymorphisms

Resumo

Abstract Three clustered, homologous paraoxonase genes ( PON1 , PON2, and PON3 ) have roles in preventing lipid oxidation and detoxifying organophosphates. Recent reports describe a genetic association between the PON genes and sporadic amyotrophic lateral sclerosis (ALS). We now report that in genomic DNA from individuals with familial and sporadic ALS, we have identified at least 7 PON gene mutations that are predicted to alter PON function. ANN NEUROL 2010

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